Variant report

Variant	rs17109517
Chromosome Location	chr14:80052845-80052846
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10144233	0.82[ASN][1000 genomes]
rs1030126	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10483926	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11849657	0.93[ASN][1000 genomes]
rs11851407	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17109467	0.93[ASN][1000 genomes]
rs17109502	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17109514	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17109520	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17109522	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17109524	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17764096	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17764102	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17836202	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1895671	0.89[ASN][1000 genomes]
rs7153625	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7153835	0.93[ASN][1000 genomes]
rs7154599	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7157330	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7158170	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045241	chr14:79885361-80734201	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1039622	chr14:79908702-80266601	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv869542	chr14:80009619-80118315	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:80011800-80069200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr14:80045200-80057000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:80045200-80062200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr14:80047400-80057000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr14:80047600-80068800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr14:80048000-80053800	Enhancers	Muscle Satellite Cultured Cells	--
7	chr14:80048200-80053400	Enhancers	NHEK	skin
8	chr14:80048400-80053600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr14:80048400-80053600	Enhancers	Osteobl	bone
10	chr14:80048400-80054200	Enhancers	NHLF	lung
11	chr14:80049000-80053200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr14:80049200-80053800	Enhancers	NH-A	brain
13	chr14:80049400-80053400	Enhancers	HSMM	muscle
14	chr14:80049600-80053800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr14:80050400-80054000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr14:80050400-80054200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr14:80050800-80053400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr14:80051200-80053200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr14:80051200-80053200	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr14:80051200-80053200	Weak transcription	NHDF-Ad	bronchial
21	chr14:80051200-80053400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr14:80051200-80054400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr14:80051200-80057000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr14:80052000-80053200	Enhancers	Fetal Lung	lung
25	chr14:80052200-80053000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr14:80052200-80053000	Enhancers	HMEC	breast
27	chr14:80052200-80053400	Enhancers	Fetal Brain Female	brain
28	chr14:80052200-80053600	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr14:80052200-80053600	Enhancers	Adipose Nuclei	Adipose
30	chr14:80052200-80053800	Enhancers	Fetal Heart	heart
31	chr14:80052200-80054000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr14:80052400-80053000	Active TSS	A549	lung
33	chr14:80052400-80053200	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr14:80052400-80053400	Weak transcription	HSMMtube	muscle
35	chr14:80052800-80054000	Enhancers	Fetal Brain Male	brain

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